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Ningdong Li, Xiaojuan Wang; Investigation of the Gene Mutations in two Chinese Families With X-linked Infantile Nystagmus. Invest. Ophthalmol. Vis. Sci. 2011;52(14):4704.
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To identify the gene mutations causing X-linked infantile nystagmus in two Chinese Families (NYS003 and NYS008), of which the family NYS003 was assigned to the FRMD7 gene linked region in our previous study and no mutations were found by direct sequencing.
Two microsatellites DXS1047 and DXS1001,were amplified by PCR reaction for linkage study in the family NYS009. FRMD7 gene were sequenced and mutations analyzed. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the FRMD gene mutations in the family NYS003.
A maximum LOD score of 1.91 at θ = 0 with DXS1001 was yielded in the family NYS008. Sequencing of FRMD7 gene showed a nucleotide change of c. 623A>G in the exon7 of FRMD7 gene in the patients, which predicted to result in an H208R amino acid change. This novel mutation was absent in 100 normal Han Chinese controls. No FRMD7 gene mutations were detected by MLPA in the family NYS003.
We identified a novel mutation, c. 623A>G (p. H208R), in a Han Chinese family with Infantile nystagmus. This mutation expands the mutation spectrum of FRMD7 and help to further study molecular pathogenesis of FRMD7.
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